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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
The findings uncover an unexpected molecular link between a vesicular transport protein and a syndrome of autoimmunity manifested by lung and joint disease.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
- Patrícia B. S. Celestino-Soper, S. Violante, A. Beaudet
- BiologyProceedings of the National Academy of Sciences
- 31 March 2012
The data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carn itine intake, loss, transport, or synthesis may beImportant in a larger fraction of nondys Morphic autism cases; and that the carnItine pathway may provide a novel target for therapy or prevention of autism.
The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families
Three large consanguineous ARNSHI Pakistani families are described, all of which display linkage to marker loci located in the genetic interval of DFNB49 locus on chromosome 5q13, which causes HI due to mutations in the TRIC gene.
Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
It is reported that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J), and it is shown that C IB2 is a new member of the vertebrate Usher interactome.
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
- M. Gajecka, U. Radhakrishna, B. Bejjani
- Medicine, BiologyInvestigative Ophthalmology and Visual Science
- 1 April 2009
The results exclude VSX1 and SOD1 as potential disease-causing genes in these families and localize a novel gene for keratoconus to a 5.6-Mb region between the SNPs rs9516572 and rs3825523 on 13q32.